Results 61 to 70 of about 80,863 (210)

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia

The Turkish Journal of Pediatrics, 2018
Glycogen storage disease type 0 (GSD0) has been considered a rare disorder, it is characterized with ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia.
Bülent Hacıhamdioğlu, Gamze Özgürhan, Bahar Çaran, Evrim Meydan-Aksanlı, Ece Keskin   +4 more
doaj   +1 more source

A novel sequence of the PHKG 2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature

Journal of Medical Case Reports
Background Glycogen storage diseases are a group of inherited metabolic disorders that affect the body’s ability to break down and/or store glycogen. Type IX glycogen storage disease is an inherited disorder caused by a deficiency of phosphorylase kinase,
Seba Harh, Shaza Shahoud, Shady Daher, Diana Alasmar   +3 more
doaj   +1 more source

Metabolic Patterning on a Chip: Towards in vitro Liver Zonation of Primary Rat and Human Hepatocytes

, 2018
An important number of healthy and diseased tissues shows spatial variations in their metabolic capacities across the tissue. The liver is a prime example of such heterogeneity where the gradual changes in various metabolic activities across the liver ...
Eo, Jinsu, Kang, Young Bok (Abraham), Mert, Safak, Usta, O. Berk, Yarmush, Martin L.   +4 more
core   +2 more sources

Total hepatectomy and liver transplant for hepatocellular adenomatosis and focal nodular hyperplasia. [PDF]

, 1992
Extensive hepatocellular adenomatosis (HA) and focal nodular hyperplasia (FNH) represent a proliferation of hepatic cells that occurs most frequently in women.
Bronsther, O, Iwatsuki, S, Marino, IR, Scantlebury, VP, Starzl, TE   +4 more
core   +1 more source

Clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Objective In order to make a well understanding on glycogen storage disease typeⅡ (GSDⅡ), this paper explored clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ.
Juan YANG, Ji-qing CAO, Zhen-hua LIU, Yi-xin ZHAN, Ying-yin LIANG, Gui-ling MO, Ya-qin LI, Yi-ming SUN, Min-zi LI, Jing LI, Cheng ZHANG   +10 more
doaj  

Posttranslational modifications of GLUT4 affect its subcellular localization and translocation [PDF]

, 2013
The facilitative glucose transporter type 4 (GLUT4) is expressed in adipose and muscle and plays a vital role in whole body glucose homeostasis. In the absence of insulin, only ~1% of cellular GLUT4 is present at the plasma membrane, with the vast ...
Bayer, Begum, Birnbaum, Bogan, Bogan, Bogan, Bryant, Cassie Welburn, Chang, Fujita, Garvey, Gill, Giorgino, Govers, Grasbon-Frodl, Gwyn Gould, Haga, Hardy, Herrmann, Hicke, Huang, Ing, James, James, Jessica Sadler, Jeyaraj, Karylowski, Kupriyanova, Lamb, Lau, Lawrence, Lawrence, Leto, Li, Liu, Livingstone, Mahajan, Marsh, Marshall, Marshall, Martin, Matunis, McCormick, Muller, Nia Bryant, Perera, Pessin, Pilch, Piper, Ren, Reusch, Saltiel, Semiz, Shi, Shi, Stöckli, Toh, Urbe, Vannucci, Varki, Watson, Williams, Yang, Yu, Zaarour   +64 more
core   +3 more sources

RESULTS OF LIFE QUALITY EVALUATION IN CHILDREN WITH HEPATIC VARIANT OF GLYCOGEN DISEASE

Педиатрическая фармакология, 2013
Glycogen storage disease (glycogenosis) is a common name for a group of hereditary diseases characterized by excessive accumulation of glycogen with normal or altered structure in various organs and tissues, most often – in liver and muscles.
A. N. Surkov, V. V. Chernikov, A. A. Baranov, L. S. Namazova-Baranova, A. S. Potapov, I. V. Vinyarskaya   +5 more
doaj   +1 more source

Brain Damage in Glycogen Storage Disease Type I

Pediatric Neurology Briefs, 2004
The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
doaj   +1 more source

Neuronal human BACE1 knock-in induces systemic diabetes in mice [PDF]

, 2016
Acknowledgements The authors thank S. Tammireddy (Diabetes and Cardiovascular Science, University of the Highlands and Islands, Inverness, UK) for technical support with the lipidomics component. Funding We would like to thank R.
Dekeryte, Ruta, Delibegovic, Mirela, Doherty, Mary K., Koss, David, Mingarelli, Marco, Mody, Nimesh, Platt, Bettina, Pluci??ska, Kaja, Riedel, Gernot, Shearer, Kirsty, Welch, Andy, Whitfield, Phillip, Whitfield, Phillip D.   +12 more
core   +4 more sources

The effect of portacaval transposition on carbohydrate metabolism: Experimental and clinical observations [PDF]

, 1965
An investigation was conducted of the influence of portacaval transposition upon carbohydrate metabolism in 45 dogs. In 17 dogs, hepatic glycogen content was measured before and from 45 to 75 days after transposition.
Faris, TD, Herrmann, TJ, Illingworth, B, Marchioro, TL, Sexton, AW, Starzl, TE, Waddell, WR   +6 more
core